The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism

Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that comp...

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Bibliografische gegevens
Hoofdauteurs: Roessler, Erich, Lacbawan, Felicitas, Dubourg, Christèle, Paulussen, Aimee, Herbergs, Jos, Hehr, Ute, Bendavid, Claude, Zhou, Nan, Ouspenskaia, Maia, Bale, Sherri, Odent, Sylvie, David, Vèronique, Muenke, Maximilian
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2009
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2674582/
https://ncbi.nlm.nih.gov/pubmed/19177455
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20982
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